Aman George
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View article: Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice
Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice Open
RICO represents a useful model for studying the pathogenesis of human coloboma.
View article: <i>TYROSINASE</i>-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects
<i>TYROSINASE</i>-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects Open
Differentiation of TYR-deficient iPSC toward RPE displayed pigmentation defects and absence of mature melanosomes, whereas melanosome biogenesis was not affected, because pre-melanosomes were still observed. These observations were also si…
View article: Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Variants in NR6A1 cause a novel oculo vertebral renal syndrome Open
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular…
View article: Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome Open
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular…
View article: Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome Open
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular…
View article: A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report Open
This case provides further evidence of the pleiotropic effects of FAT1 in optic fissure closure and kidney function. Also, because this variant is in the last exon, it would be anticipated to escape nonsense-mediated decay, opening the pos…
View article: Zebrafish model of <scp>RERE</scp> syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling
Zebrafish model of <span>RERE</span> syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling Open
Background RERE is a highly conserved transcriptional co‐regulator that is associated with a human neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH, OMIM: 616975). Results We show that the zebrafish…
View article: AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration Open
Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder caused by a missense substitution in CTRP5 . Distinctive clinical features include sub-retinal pigment epithelium (RPE) deposits, choroidal neovascularization, and R…
View article: Deep learning predicts function of live retinal pigment epithelium from quantitative microscopy
Deep learning predicts function of live retinal pigment epithelium from quantitative microscopy Open
Increases in the number of cell therapies in the preclinical and clinical phases have prompted the need for reliable and noninvasive assays to validate transplant function in clinical biomanufacturing. We developed a robust characterizatio…
View article: Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients Open
The heterogeneity of individual cells in a tissue has been well characterized, largely using ex vivo approaches that do not permit longitudinal assessments of the same tissue over long periods of time. We demonstrate a potentially novel ap…
View article: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly Open
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropa…